COSMIC:
COSN17600456 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68721269 (SAS)
Genomes Max Group AF
0.68721269 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90571144A>G , CM000677.2:g.90571144A>G | GRCh38 |
| NC_000015.9:g.91114376A>G , CM000677.1:g.91114376A>G | GRCh37 |
| NC_000015.8:g.88915380A>G | NCBI36 |
| NG_047180.1:g.46259A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686240.1:c.232-22492A>G | ENSP00000508866.1:n.232-22492A>G | |
| ENST00000687075.1:c.57-22492A>G | ||
| ENST00000691029.1:c.232-22492A>G | ENSP00000510507.1:n.232-22492A>G | |
| ENST00000692149.1:c.232-22492A>G | ENSP00000510448.1:n.232-22492A>G | |
| ENST00000268184.11:c.232-22492A>G MANE Select | ENSP00000268184.6:n.232-22492A>G | |
| ENST00000268184.10:c.232-22492A>G | ENSP00000268184.6:n.232-22492A>G | |
| ENST00000420329.6:c.232-22492A>G | ENSP00000416573.2:n.232-22492A>G | |
| ENST00000558619.5:n.316-22492A>G | ||
| ENST00000560098.5:c.232-27306A>G | ENSP00000452640.1:n.232-27306A>G | |
| ENST00000560927.1:n.522-22492A>G | ||
| ENST00000561218.5:n.241-29164A>G | ||
| NM_001042574.2:c.232-22492A>G | NP_001036039.1:n.232-22492A>G | |
| NM_022769.4:c.232-22492A>G | NP_073606.3:n.232-22492A>G | |
| XM_005254968.1:c.232-22492A>G | XP_005255025.1:n.232-22492A>G | |
| XM_011521906.1:c.133-22492A>G | XP_011520208.1:n.133-22492A>G | |
| XM_005254968.2:c.232-22492A>G | XP_005255025.1:n.232-22492A>G | |
| XM_011521906.2:c.133-22492A>G | XP_011520208.1:n.133-22492A>G | |
| NM_022769.5:c.232-22492A>G MANE Select | NP_073606.3:n.232-22492A>G | |
| NM_001042574.3:c.232-22492A>G | NP_001036039.1:n.232-22492A>G |